Cristin-person-ID: 1506
Person

Inger-Lise Mero

  • Stilling:
    Cand.med.stipendiater
    ved Nevrologisk avdeling ved Oslo universitetssykehus HF

Resultater Resultater

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind; Bjørnstad, Pål Marius; Szczałuba, Krzysztof; Gasperowicz, Piotr; Kamien, Benjamin; Nedregaard, Bård; Holmgren, Asbjørn mfl.. 2023, Genes. AUSTRALIA, UIO, OUS, WUMVitenskapelig artikkel

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S; Chawla, Maninder Singh mfl.. 2023, Human Molecular Genetics. UTEM, SGHMSUoL, APT, UOP, OLHSC, UoE, UPS(I, GOSH, OUS, UdL, TUoDTC, UCLVitenskapelig artikkel

Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study.

Wiedmann, Markus; Jensen Steinsvåg, Ingunn; Dinh, Tovy; Vigeland, Magnus Dehli; Larsson, Pål Gunnar; Hjorthaug, Hanne Sagsveen; Sheng, Ying; Mero, Inger-Lise; Selmer, Kaja Kristine. 2023, Brain and Spine. UIO, OUSVitenskapelig artikkel

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Absalom, Nathan L.; Liao, Vivian W.Y.; Johannesen, Katrine M.H.; Gardella, Elena; Jacobs, Julia; Lesca, Gaetan; Gokce-Samar, Zeynep; Arzimanoglou, Alexis; Zeidler, Shimriet; Striano, Pasquale mfl.. 2022, Nature Communications. UdMI, DEF, SDU, GASLINI, FREIBURG, SYDNEY, OUS, HCL, UWS, HHU, EMC, UCALGARY, UdSdG, UCBLVitenskapelig artikkel

Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

Tønne, Elin; Due-Tønnessen, Bernt Johan; Vigeland, Magnus Dehli; Amundsen, Silja Svanstrøm; Ribarska, Teodora Plamenova; Åsten, Pamela; Sheng, Ying; Helseth, Eirik; Gilfillan, Gregor; Mero, Inger-Lise mfl.. 2022, American Journal of Medical Genetics. Part A. UIO, LDS, OUSVitenskapelig artikkel
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